Disorders


 

3-Methylglutaconic Aciduria Type 2


Synonym(s): 3-Methylglutaconic Aciduria Type II, Barth Syndrome, Endocardial Fibroelastosis Type 2, Endocardial Fibroelastosis, X-Linked, MGA, Type II, MGA2

 

OMIM

GeneLocusProtein
TAZXq28Tafazzin

Laboratory Test Method Prenatal Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands• Sequence analysis of the entire coding region
 
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Sequence analysis of the entire coding region
Baylor College of Medicine, John Welsh Cardiovascular Diagnostic Laboratory - Houston, TX, USA• Sequence analysis of the entire coding region
 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
 
CGC Genetics - Porto, Portugal• Sequence analysis of the entire coding region
Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders - Prague, Czech Republic• Sequence analysis of the entire coding region
 
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA• Sequence analysis of the entire coding region
Health in Code S.L. - A Coruña, Spain• Sequence analysis of the entire coding region
 
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
National Health Laboratory Services, Inherited Metabolic Diseases - Cape Town, South Africa• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain• Sequence analysis of the entire coding region
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region
• Analyte
University Hospital Münster, Institute for Genetics of Heart Diseases (IfGH) - Münster, Germany• Sequence analysis of the entire coding region
 
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA• Sequence analysis of the entire coding region
 

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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